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| Nomenclature |
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Symbol:
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Fxntm1Mkn
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Name:
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frataxin;
targeted mutation 1, Michel Koenig
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MGI ID: |
MGI:2177162 |
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Synonyms: |
Frda-, Frdadel4 |
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Gene:
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Fxn
Location:
Chr19:24261453-24280605 bp, - strand
Genetic Position: Chr19,
19.39 cM, cytoband C1
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Mutation
origin |
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Germline Transmission:
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Earliest citation of germline transmission:
J:62185
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Parent Cell Line:
| Not Specified (ES Cell) |
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Strain of Origin:
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129/Sv
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Mutation
description |
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Allele
Type: | |
Targeted (knock-out) |
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Mutations: | |
Insertion, Intragenic deletion |
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Mutation details: A loxP-flanked PGK-neomycin resistance cassette replaced a genomic DNA fragment containing exon 4, which is highly conserved and often mutated in humans. An additional line was also produced in which the loxP flanked neomycin cassette was removed by Cre mediated recombination, but no distinction was made between these alleles in the original reference. From J:90098: The presence of a human FRDA transgene in hemizygous form in a Frdatm1Mkn homozygous null background rescues the embryonic lethal phenotype and complements for the loss of endogenous mouse frataxin. (J:62185)
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:62185
Cossee M et al.,
"Inactivation of the Friedreich ataxia mouse gene leads to early embryonic lethality without iron accumulation."
Hum Mol Genet 2000 May 1;9(8):1219-26
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All: |
8 reference(s)
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Analysis Tools
